Comparison of colonic phenotype and adenomatous polyposis coli (APC) gene mutation in familial adenomatous polyposis
| Colorectal lesions | APC gene mutation | |||||||||
|---|---|---|---|---|---|---|---|---|---|---|
| Case No | Family | Age* (y) | Sex | No of polyps | Predominant site | Invasive cancer | Serrated adenoma | Exon (codon) | Predicted effect | PTT |
| *Age at time of colonoscopy. | ||||||||||
| FS; frameshift mutation; PTT; protein truncation test. | ||||||||||
| I | 64 | F | <20 1 | Proximal | − | 1 | 4 (161) | Nonsense | Positive | |
| II | 37 | M | <50 2 | Entire | + | 1 | 9 (332) | Nonsense | Positive | |
| III | 20 | F | >1000 3 | Distal | − | 0 | 13 (554) | Nonsense | Positive | |
| IV | 12 | F | >100 4 | Distal | − | 0 | 15 (1063) | FS; stop at codon 1129 | Positive | |
| IV | 10 | M | >100 5 | Distal | − | 0 | 15 (1063) | FS; stop at codon 1129 | Positive | |
| V | 45 | M | >1000 6 | Proximal | − | 0 | 15 (1251) | FS; stop at codon 1264 | Positive | |
| VI | 29 | F | >1000 7 | Entire | − | 0 | 15 (1324) | FS; stop at codon 1414 | Positive | |
| VI | 27 | F | >1000 8 | Entire | + | 0 | 15 (1324) | FS; stop at codon 1414 | Positive | |
| VII | 46 | F | >1000 9 | Distal | + | 0 | 15 (1324) | FS; stop at codon 1414 | Positive | |
| VIII | 21 | M | <100 10 | Entire | − | 1 | 15 (1556) | FS; stop at codon 1558 | Positive | |
| VIII | 16 | F | >100 11 | Entire | − | 0 | 15 (1556) | FS; stop at codon 1558 | Positive | |